Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease

Abstract Background Wolman disease is a rare, lysosomal storage disorder in which biallelic variants in the LIPA gene result in reduced or complete lack of lysosomal acid lipase. The accumulation of the substrates; cholesterol esters and triglycerides, significantly impacts cellular function. Untrea...

Full description

Bibliographic Details
Main Authors: Jane E. Potter, Gemma Petts, Arunabha Ghosh, Fiona J. White, Jane L. Kinsella, Stephen Hughes, Jane Roberts, Adam Hodgkinson, Kathryn Brammeier, Heather Church, Christine Merrigan, Joanne Hughes, Pamela Evans, Helen Campbell, Denise Bonney, William G. Newman, Brian W. Bigger, Alexander Broomfield, Simon A. Jones, Robert F. Wynn
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Enzyme replacement therapy (ERT)
Dietary substrate reduction (DSR)
Gene therapy
Hematopoietic stem cell transplant (HCT)
Hemophagocytic lymphohistiocytosis (HLH)
Lysosomal storage disorders (LSD)
Online Access:https://doi.org/10.1186/s13023-021-01849-7

Internet

https://doi.org/10.1186/s13023-021-01849-7

Similar Items